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Biomarkers in Friedreich's Ataxia

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ClinicalTrials.gov Identifier: NCT02497534
Recruitment Status : Recruiting
First Posted : July 14, 2015
Last Update Posted : June 11, 2020
Sponsor:
Collaborators:
Children's Miracle Network
National Institutes of Health (NIH)
Friedreich's Ataxia Research Alliance
Information provided by (Responsible Party):
University of Florida

Tracking Information
First Submitted Date July 7, 2015
First Posted Date July 14, 2015
Last Update Posted Date June 11, 2020
Study Start Date September 2015
Estimated Primary Completion Date June 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 7, 2020)
  • Cardiac MRI [ Time Frame: Baseline and Follow-Up Visits ]
    Cardiac MRI will be used to characterize cardiac morphology and function.
  • Echocardiogram [ Time Frame: Baseline and Follow-Up Visits ]
    Echocardiogram will be used to characterize cardiac morphology and function.
  • Friedreich's Ataxia Rating Scale (FARS) [ Time Frame: Baseline and Follow-Up Visits ]
    FARS scores describe specific neurological impairments in FA.
  • Metabolic exercise testing [ Time Frame: Baseline and Follow-Up Visits ]
    Metabolic exercise testing will be performed on either a recumbent bike or hand ergometer and will measure the maximal amount of exercise the subject is able to perform.
  • Scale for the Assessment and Rating of Ataxia (SARA) [ Time Frame: Baseline and Follow-Up Visits ]
    Clinical scale assessing impairment levels in cerebellar ataxia
  • Muscle Biopsy [ Time Frame: Baseline ]
    The muscle sample will be used to evaluate Frataxin quantification
  • Skin Biopsy [ Time Frame: Baseline ]
    Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.
  • 9-Hole-Peg Test [ Time Frame: Baseline and Follow-Up Visits ]
    Assesses upper extremity function and motor coordination.
  • Pulmonary Function Testing [ Time Frame: Baseline and Follow-Up Visits ]
    Breathing tests to assess lung strength and function.
Original Primary Outcome Measures
 (submitted: July 9, 2015)
  • Cardiac MRI [ Time Frame: Baseline ]
    Cardiac MRI will be used to characterize cardiac morphology and function.
  • Echocardiogram [ Time Frame: Baseline ]
    Echocardiogram will be used to characterize cardiac morphology and function.
  • Friedreich's Ataxia Rating Scale (FARS) [ Time Frame: Baseline ]
    FARS scores describe specific neurological impairments in FA.
  • Goal-directed motor control testing [ Time Frame: Baseline ]
    Goal-directed motor control testing will evaluate position and time error of tasks performed by the upper and lower extremities.
  • Metabolic exercise testing [ Time Frame: Baseline ]
    Metabolic exercise testing will be performed on a recumbent bike and will measure the maximal amount of exercise the subject is able to perform.
  • Isometric motor control testing [ Time Frame: Baseline ]
    Isometric motor control testing will evaluate force and time error of tasks performed by the upper and lower extremities.
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Biomarkers in Friedreich's Ataxia
Official Title Biomarkers in Friedreich's Ataxia
Brief Summary The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.
Detailed Description Friedreich's ataxia (FA) is an autosomal recessive disease caused by a mutation in the frataxin gene (FXN). Although rare, FA is the most common form of hereditary ataxia, affecting 1 in every 50,000 people in the United States. Currently, palliative therapies are the only treatment for FA patients. However, current gene therapy efforts in other neuromuscular diseases have positioned the investigator's research program to extend these discoveries and techniques to FA. As new therapies become available for clinical application, it is crucial to identify non-invasive outcomes measures of cardiac and neuromuscular performance with adequate sensitivity to detect the impact of treatments.
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia
Condition Friedreich's Ataxia
Intervention Not Provided
Study Groups/Cohorts
  • Affected with Friedreich's ataxia
    Friedreich's ataxia patients aged 8 to 70 (inclusive). Assessments will include collection of genetic mutation reports, cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing with a recombinant bike and/or hand ergometer, pulmonary function testing, and gait analysis. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.
  • Healthy controls
    Health controls aged 8 to 70 (inclusive). Assessments will include cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing, hand ergometer for exercise testing, pulmonary function testing, gait analysis, and an optional blood draw.
  • Carriers of Friedreich's ataxia
    An obligate carrier aged 18 to 70 (inclusive) of the abnormal Friedreich's ataxia gene by being a parent of a child with Friedreich's ataxia. No assessments are to be conducted. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 10, 2020)
203
Original Estimated Enrollment
 (submitted: July 9, 2015)
30
Estimated Study Completion Date June 2021
Estimated Primary Completion Date June 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
  • Between the ages of 8 and 70 (inclusive)
  • Are able to tolerate metabolic exercise testing
  • Are stable on cardiac medication regimen for 3 months prior to screening

Exclusion Criteria:

  • Presence of unstable heart disease
  • Receipt of cardiac transplant
  • Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study
Sex/Gender
Sexes Eligible for Study: All
Ages 8 Years to 70 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Bryanna Sharot, BS 352-294-8754 bsharot@ufl.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02497534
Other Study ID Numbers IRB201500369-N
UL1TR000064 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party University of Florida
Study Sponsor University of Florida
Collaborators
  • Children's Miracle Network
  • National Institutes of Health (NIH)
  • Friedreich's Ataxia Research Alliance
Investigators
Principal Investigator: Manuela Corti, PT, PhD University of Florida
PRS Account University of Florida
Verification Date June 2020